檢索結果 - Tobias B. Haack

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  1. 1
    Treatable mitochondrial diseases: cofactor metabolism and beyond

    Treatable mitochondrial diseases: cofactor metabolism and beyond 由 Felix Distelmaier, Tobias B. Haack, Saskia B. Wortmann, Johannes A. Mayr, Holger Prokisch

    出版 2016
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  2. 2
    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease 由 Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    出版 2014
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  3. 3
    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb 由 Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B. Haack, Elisabeth Graf, Tim M. Strom, Thomas Meitinger, Wasim Ahmad

    出版 2017
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  4. 4
    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort

    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort 由 Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik

    出版 2023
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  5. 5
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 由 Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

    出版 2015
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  6. 6
    Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

    Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway 由 Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz Zimmermann, T Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

    出版 2011
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  7. 7
    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges

    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges 由 Vidiyaah Santhanakumaran, Samuel Groeschel, K. Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck‐Wödl, Holger Hengel, Lüdger Schöls, Tobias B. Haack, Ingeborg Krägeloh‐Mann, Lucia Laugwitz

    出版 2022
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  8. 8
    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis 由 Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani

    出版 2012
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  9. 9
    Spectrum of combined respiratory chain defects

    Spectrum of combined respiratory chain defects 由 Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

    出版 2015
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  10. 10
    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

    X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation 由 Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B. Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck‐Wödl, Sander B. Nabuurs, André B. P. Kuilenburg, Arjan PM de Brouwer, Lüdger Schöls

    出版 2014
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  11. 11
    Genomes in clinical care

    Genomes in clinical care 由 Olaf Rieß, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie L. Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias B. Haack

    出版 2024
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  12. 12
    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria 由 Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

    出版 2012
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  13. 13
    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

    Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy 由 Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Čegan, Lüdger Schöls, Erwin Schleicher, Andreas Peter

    出版 2020
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  14. 14
    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

    Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia 由 Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann

    出版 2016
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  15. 15
    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum 由 Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, Jakob Rath, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztuğ, Andreas Hahn, Fritz Zimprich

    出版 2017
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  16. 16
    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome

    Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome 由 Tobias B. Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A. Mayr, Peter Freisinger, Hiroki‎ Yoshimatsu, Ken‐ichi Inui, Tim M. Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

    出版 2012
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  17. 17
    PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

    PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum 由 Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Dürr, Lüdger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stévanin, Wilson Marques, Stephan Züchner

    出版 2013
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  18. 18
    MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

    MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention 由 Christin Tischner, Annette Hofer, Veronika Wulff, Joanna Magdalena Stepek, Iulia Dumitru, Lore Becker, Tobias B. Haack, Laura S. Kremer, Alexandre Datta, Wolfgang Sperl, Thomas Floß, Wolfgang Wurst, Zofia M. Chrzanowska‐Lightowlers, Martin Hrabé de Angelis, Thomas Klopstock, Holger Prokisch, Tina Wenz

    出版 2014
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  19. 19
    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies

    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies 由 Daria Diodato, Laura Melchionda, Tobias B. Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A. Powell, Michal Minczuk, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi

    出版 2014
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  20. 20
    Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

    Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations 由 Marjan E. Steenweg, Daniele Ghezzi, Tobias B. Haack, Truus E. M. Abbink, Diego Martinelli, Carola G.M. van Berkel, Annette Bley, Luísa Diogo, Eugênio Grillo, Johann te Water Naudé, Tim M. Strom, Enrico Bertini, Holger Prokisch, Marjo S. van der Knaap, Massimo Zeviani

    出版 2012
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